Variant report
| Variant | rs12971550 |
|---|---|
| Chromosome Location | chr19:42350780-42350781 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr19:42349297..42351967-chr19:42352906..42355134,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000142025 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs10404939 | 0.86[AMR][1000 genomes];0.81[ASN][1000 genomes] |
| rs10414356 | 0.86[AMR][1000 genomes];0.83[ASN][1000 genomes] |
| rs10500284 | 0.84[ASN][1000 genomes] |
| rs12976571 | 0.86[AMR][1000 genomes];0.81[ASN][1000 genomes] |
| rs1457144 | 0.87[AMR][1000 genomes];0.81[ASN][1000 genomes] |
| rs1870093 | 0.81[ASN][1000 genomes] |
| rs2290695 | 0.85[AMR][1000 genomes];0.81[ASN][1000 genomes] |
| rs2305809 | 0.86[AMR][1000 genomes];0.84[ASN][1000 genomes] |
| rs3922888 | 0.86[AMR][1000 genomes];0.83[ASN][1000 genomes] |
| rs4130852 | 0.86[AMR][1000 genomes];0.83[ASN][1000 genomes] |
| rs4803511 | 0.86[AMR][1000 genomes];0.83[ASN][1000 genomes] |
| rs4803512 | 0.87[AMR][1000 genomes];0.82[ASN][1000 genomes] |
| rs6509001 | 0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs7248641 | 0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs7252877 | 0.85[AMR][1000 genomes] |
| rs8104958 | 0.86[AMR][1000 genomes];0.81[ASN][1000 genomes] |
| rs8113780 | 0.86[AMR][1000 genomes];0.81[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv522854 | chr19:42120283-42931004 | Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 104 gene(s) | inside rSNPs | diseases |
| 2 | nsv1061878 | chr19:42325490-42416056 | Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
| 3 | nsv911776 | chr19:42343526-42416056 | Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12971550 | RABAC1 | Cis_1M | lymphoblastoid | RTeQTL |
Chromatin state (count:0 , 50 per page) page:
| No data |
